Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S474*
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SMAD4

NM_005359.6:p.S474*

Associated Papers

SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.

Jelsig AM et al.

Endoscopy International Open, 2022

36531685 (PubMed )
Supplement: 2768supmat_10-1055-a-1954-0522.pdf

Driver mutations of intrahepatic cholangiocarcinoma shape clinically relevant genomic clusters with distinct molecular features and therapeutic vulnerabilities.

Wang XY et al.

Theranostics, 2022

34987644 (PubMed )
Supplement: thnov12p0260s1.pdf

Frequent post-operative monitoring of colorectal cancer using individualised ctDNA validated by multiregional molecular profiling.

Yaegashi M et al.

British Journal of Cancer, 2021

33658639 (PubMed )
Supplement: 41416_2021_1266_MOESM2_ESM.xlsx › Date_file_S1

A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.

Lowder CY et al.

Surgical Oncology, 2020

Appendix-derived Pseudomyxoma Peritonei (PMP): Molecular Profiling Toward Treatment of a Rare Malignancy.

Gleeson EM et al.

American Journal of Clinical Oncology, 2018

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H et al.

Oncotarget, 2017

28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › SMAD4.Ion

Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation.

Honda Y et al.

Clinical Journal of Gastroenterology, 2013

Complete Response to Immunotherapy in a Patient with MUTYH-Associated Polyposis and Gastric Cancer: A Case Report.

Mathias-Machado MC et al.

Case Reports in Oncology, 0

Higher TP53 somatic mutation prevalence from liquid biopsy analysis in ever smoker non-small-cell lung cancer patients.

Erdem HB et al.

Mutation Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."